L84* (p.Leu84Ter) variant of EYS (Protein eyes shut homolog)
L84* (p.Leu84Ter) in EYS (Protein eyes shut homolog) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature.
L84* (p.Leu84Ter) variant details
- p.Leu84Ter
- rs2533029550
- ClinGen CA364790314
- ClinVar RCV003468033
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)